Canonical Allele Identifier: CA434496933
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720037T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670886T>G , CM000665.2:g.81670886T>G GRCh38
NC_000003.11:g.81720037T>G , CM000665.1:g.81720037T>G GRCh37
NC_000003.10:g.81802727T>G NCBI36
NG_011810.1:g.95915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.381A>C MANE Select ENSP00000410833.2:p.Pro127=
ENST00000429644.6:c.381A>C ENSP00000410833.2:p.Pro127=
ENST00000477426.1:n.97A>C
ENST00000489715.1:c.258A>C ENSP00000419638.1:p.Pro86=
NM_000158.3:c.381A>C NP_000149.3:p.Pro127=
NM_000158.4:c.381A>C MANE Select NP_000149.4:p.Pro127=